Results 111 to 120 of about 530,980 (262)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram, Guangwei Du, Sangam Kanekar, Nandakumar Nagaraja   +3 more
wiley   +1 more source

Endothelial Cell Proteins as Biomarkers in Susac Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Susac syndrome (SS) is a rare CD8+ T cell–mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial‐associated proteins as ...
Rohit Benjamin, Yue Andy Qi, Ying Hao, Catherine DeMarino, Samuel Darko, Irene Cortese, Daniel S. Reich, María I. Gaitán, Steven Jacobson, Bridgett J. Billioux, Bryan Smith, Avindra Nath   +11 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Changes in Immune‐Inflammation Status and Prognosis in Pregnancy‐Related Cerebral Venous Thrombosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Distinguishing pathological changes from physiological adaptations in pregnancy‐related cerebral venous thrombosis (CVT) is clinically challenging. This study aimed to characterize coagulation, immune‐inflammation, and dehydration status in these patients and assess their prognostic value.
Xiaoming Zhang, Zilin Xu, Ran Duan, Chunxiao Lu, Da Zhou, Chen Zhou, Ran Meng, Xunming Ji   +7 more
wiley   +1 more source

Data‐Driven SuStaIn Model of Disability Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether ordinal Subtype and Stage Inference (SuStaIn) applied to routine ALSFRS‐R item scores can identify reproducible disability progression patterns in amyotrophic lateral sclerosis (ALS) and provide clinically meaningful staging.
Giammarco Milella, Veria Vacchiano, Vittorio Velucci, Stefano Zoccolella, Rocco Liguori, Giovanni Defazio   +5 more
wiley   +1 more source

Systemic Extracerebral Atherosclerotic Burden and Dementia Risk After Incident Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Stroke survivors are at increased risk of dementia, but clinically accessible markers of risk heterogeneity remain limited. Previous studies have largely examined atherosclerotic disease in individual vascular beds rather than the overall burden of systemic extracerebral atherosclerosis.
Zhexuan Yu, Tianxue Chen, Wei Jin, Weifeng Jin, Haitong Wan   +4 more
wiley   +1 more source

Emerging Targeted Delivery Strategies of Nanosystems for Ischemic Stroke Treatment

International Journal of Nanomedicine
Jia-Xin Ren,1,* Hong-Yin Ma,1,* Wen-Jing Yin,1 Yi-Kai Li,2 Shuang-Yin Lei,1 Jia-Cheng Liu,1 Yi Yang,1 Zhen-Ni Guo1,3 1Stroke Center, Department of Neurology, the First Hospital of Jilin University, Chang Chun, People’s Republic of China ...
Ren JX, Ma HY, Yin WJ, Li YK, Lei SY, Liu JC, Yang Y, Guo ZN   +7 more
doaj  

Anticoagulation Treatment Response Among Phenotypic ESUS Clusters: Evidence From CASPR

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate treatment effect heterogeneity across phenotypic clusters of patients with cryptogenic embolic stroke using causal inference methods. Methods From a retrospective, multicenter cohort of patients with cryptogenic embolic stroke, we estimated the treatment effect of anticoagulation versus antiplatelet therapy in patients ...
Elena Badillo Goicoechea, Patrick Ellsworth, James E. Siegler, James R. Brorson, Christina M. Lineback, Frank G. Conyers, Deborah Kerrigan, Kelsey Eklund, Shadi Yaghi, Farid Khasiyev, Emiliya Melkumova, Collin J. Culbertson, Marissa D'Souza, Dinesh V. Jillella, Patrick Glover, Hassan Aboul‐Nour, Fadi Nahab, Mahan Shahrivari, Simona Nedelcu, David S. Liebeskind, Matthew M. Smith, Aaron Rothstein, Anna Bowman, Alicia Zha, Narendra Kala, Ahmad Abu Qdais, Sami Al Kasab, Mudassir Farooqui, Diana Rojas‐Soto, Yasmin Aziz, Franziska Herpich, Jean‐Philippe Daniel, Sean L. Thompson, Vivek Patel, Thanh N. Nguyen, Siddharth Sehgal, Wenzheng Yu, Wayneho Kam, Russel Van Coevering, Oana M. Dumitrascu, Muhammad Alvi, Balaji Krishnaiah, Setareh Salehi Omran, Guillermo Linares, Eesha Singh, Hamid Ali, Mary Penckofer, Jesse M. Thon, Shani Mannion, Dalia Chahien, Lucia Chen, Fawad Talat, Mehdi Abbasi, Richa Sharma   +53 more
wiley   +1 more source

Copine‐4 Paraneoplastic Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We characterize copine‐4 (CPNE4)‐IgG and report clinical associations. Among 844 samples with unclassified neural IgGs identified by mouse‐brain indirect immunofluorescence assay over 2 years, 5 samples (serum, 3; CSF, 2) from 3 patients produced a distinctive cerebrum‐restricted synaptic pattern.
Mimi S. Fang, Amy Ml Quek, Clement Yong, Amir Adeli, Gabrielle N. Conway, Connie E. Lesnick, Diana Anissian, Divyanshu Dubey, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael Gilligan, Andrew McKeon   +12 more
wiley   +1 more source